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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5176 - 5200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:576	proteinuria	ACE ACSL4 CD38 CD55 CTNS CYP11B1 DCN DGKE DLST EHHADH FH FUT1 G6PC1 GALT GBA1 GLA GPC5 GUSB HPSE2 HPSE ICAM1 LCAT LEPR LPIN2 LYZ MDH2 MGAT5 NEU1 OCRL PLA2G7 PLCE1 PMM2 PTGS2 SDC1 SDHA SDHB SDHC SDHD SGPL1 SLC35A1 SLC37A4	10559 10855 1497 1584 1604 1634 1636 1743 1962 2182 2262 2271 2523 2538 2542 2592 2629 2717 2990 3383 3931 3953 4069 4191 4249 4758 4952 51196 5373 5743 60495 6382 6389 6390 6391 6392 7941 8526 8879 952 9663	Homo sapiens (human)
DOID:4767	classic pulmonary blastoma	CD74	972	Homo sapiens (human)
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	Alg2	56737	Mus musculus (house mouse)
DOID:4183	pseudopseudohypoparathyroidism Aliases: Normocalcemic pseudohypoparathyroidism	APRT ASAH1 GPC1	2817 353 427	Homo sapiens (human)
DOID:3437	laryngitis	OVGP1	5016	Homo sapiens (human)
DOID:5563	malignant teratoma Aliases: Immature teratoma Teratoma, malignant, NOS malignant Extragonadal teratoma primary malignant extragonadal teratoma	ACAT1 ALPP DHCR24 ENO2 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PSMD10 PTEN SMUG1	1718 2026 2331 23583 250 2523 2674 38 4199 4360 5236 5716 5728	Homo sapiens (human)
DOID:0111216	autosomal recessive centronuclear myopathy Aliases: AR-CNM	MTM1 MTMR14	4534 64419	Homo sapiens (human)
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	gapdh	317743	Danio rerio (zebrafish)
DOID:14336	estrogen excess Aliases: hyperestrogenism	CYP19A1	1588	Homo sapiens (human)
DOID:0050158	desquamative interstitial pneumonia Aliases: RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease	COMT SFTPC	1312 6440	Homo sapiens (human)
DOID:0110807	hereditary spastic paraplegia 55 Aliases: SPG55 autosomal recessive spastic paraplegia 55 autosomal recessive spastic paraplegia type 55	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:3650	lactic acidosis	Dlat Pygl	110095 235339	Mus musculus (house mouse)
DOID:1509	avoidant personality disorder Aliases: anxious personality disorder	COMT IMPA1	1312 3612	Homo sapiens (human)
DOID:7428	pineal region germinoma	CALR	811	Homo sapiens (human)
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	alg2.L	446622	Xenopus laevis (African clawed frog)
DOID:5325	Roberts syndrome Aliases: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome	MELTF SMC3	4241 9126	Homo sapiens (human)
DOID:0050557	congenital muscular dystrophy	Col6a1	12833	Mus musculus (house mouse)
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	ABO ACACA ACE ACOD1 ADH1B AKR1A1 AKR1B10 ALDH2 ALDH3A2 ALOX5 ANXA5 APRT ARSA BCKDHB BST2 CALR CAT CD14 CD1D CD209 CD44 CEACAM5 CHI3L1 CHKA CLEC7A CYP17A1 CYP1A2 CYP21A2 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A4 DGAT2 EBP ENO1 ENOSF1 EXT1 FASN FCGR3B FCN2 G6PD GAL3ST1 GALNT10 GAPDH GBA1 GFPT1 GGT1 GLB1 GOLPH3 GPC3 GPI GUSB GYS2 HACD1 HK2 HMMR HPGDS HPSE2 HPSE HS3ST3B1 HS6ST3 HSD17B8 HSPG2 ICAM1 IGF2R IL18R1 IL1RL1 INPPL1 ISYNA1 KLRB1 KLRC1 KLRD1 KLRK1 LGALS3 LGALS4 LGALS9 LIPA LY75 LYPD5 MBL2 MBOAT7 MGAT3 MICA MPI MPPE1 MRC1 NAMPT NANS NCAM1 OGG1 PAPSS1 PARP1 PCYT1A PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLAUR PLCE1 PLPP1 PNPLA3 PRKAA2 PRKCSH PRNP PRSS21 PSAP PSMD10 PTEN PTGES PTGS2 RGN SDC2 SELE SHMT2 SIGLEC1 SIRT2 SLC17A5 SLC35A1 SLC35A2 SOAT1 SPHK1 SRGN TDG TKT TKTL1 TMED5 TNF UAP1 UGT1A1 UGT1A6 UGT1A7 UNG VCAN VTCN1 XYLT2 YDJC	100507436 10135 10327 1048 10559 10682 10855 10942 1116 1119 120227 125 142 1462 150223 1544 1555 1557 1571 1576 1586 1589 1594 1636 2023 2131 217 2194 2215 2220 224 22914 22933 240 2539 2597 2629 26503 266722 2673 2678 2719 2720 27306 28 2821 284348 2923 2990 2998 308 30835 3099 31 3161 3339 3383 3482 353 3636 3820 3821 3824 3958 3960 3965 3988 4065 410 4153 4248 4351 4360 4684 4968 50999 51196 5130 51477 5290 5291 5293 5294 5320 5329 54187 54577 54578 54658 5552 55556 55568 5563 5589 5621 5660 57016 5716 5728 5743 594 60495 6383 6401 64083 64132 64581 6472 65258 6614 6646 6675 684 6996 7086 7124 730249 7355 7374 79143 7923 79679 80339 811 8277 84649 847 8611 8809 8877 9061 9104 912 9173 9200 929 9514 9536 960 9953	Homo sapiens (human)
DOID:0080537	hypermanganesemia with dystonia 2	Slc39a14	213053	Mus musculus (house mouse)
DOID:3393	coronary artery disease Aliases: CHD Coronary disease coronary arteriosclerosis coronary heart disease	CTS2 EMI2 GLK1 HXK1 HXK2 OGG1	850317 850614 851977 852128 852639 854942	Saccharomyces cerevisiae S288C
DOID:0080005	bone remodeling disease	Idh2	361596	Rattus norvegicus (Norway rat)
DOID:0060896	Parkinson's disease 23 Aliases: autosomal recessive early-onset Parkinson disease 23 autosomal recessive early-onset Parkinson's disease 23	ACACA ACE ACHE ACO1 ACO2 ACOT7 ACSBG1 ADH1B ADH1C ADH4 ADH7 AKR1A1 ALDH2 ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GAT1 B4GALNT1 BST1 CALR CAT CD14 CD38 CD44 CD55 CEACAM6 CEL CHAT CHI3L1 CHIT1 CNTN1 CNTN2 COMT CTNS CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A5 CYP4F3 DCN DGKD DHRS11 DLD DPEP1 ELOVL7 ENO2 EPHX2 FASN FBP1 FBXO2 FCER2 FCGR3B G6PD GAD1 GAD2 GALC GALNS GAPDH GBA1 GBA2 GFPT1 GLA GLB1 GLUL GNPDA2 GPNMB GPX1 HAS2 HEXA HK1 HK2 HPGDS HSD17B6 HSD17B7 HSD3B7 ICAM1 IDUA IGF2R INPP5F INPP5K ISYNA1 KL L1CAM LGALS1 LGALS3 LGALS4 LYPD5 MAG MCAT MDGA2 MGLL MRC1 NAGLU NEIL1 NT5E OGA OGG1 PAFAH1B1 PARP1 PDHA1 PDIA3 PGK1 PGP PIGC PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G1B PLA2G6 PLB1 PLD1 PLD2 PNPLA6 PRKAA2 PRNP PSAP PTEN PTGES3 PTGES PTGS2 RENBP RGMA RTN4R SARM1 SCD SHMT1 SHMT2 SI SIGLEC7 SIRT2 SLC2A4 SLC33A1 SLC39A8 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SPTSSB ST8SIA4 STBD1 SUCLA2 SYNJ1 TALDO1 TIGAR TKT TM7SF2 TMED9 TNKS2 UGT1A9 UMOD VCAM1 XYLT2	10159 10327 10457 1056 10724 10728 10908 1103 1116 1118 11332 11343 125 126 127 1272 131 1312 132789 142 1497 151056 1543 1544 1545 1555 1557 1559 1571 1577 1586 1594 1604 161357 1634 1636 165679 1738 1800 2026 2053 217 2194 2203 2208 2215 22876 22933 23098 23205 23583 2539 2571 2572 2581 2583 2588 2597 26232 2629 2673 27036 27087 2717 2720 27306 27349 2752 283871 284348 2876 2923 3037 3073 308 3098 3099 31 3383 3425 3482 353 3897 3956 3958 3960 4051 4099 410 427 43 4360 4669 4680 48 4907 4968 50 5048 51477 51478 5160 51763 5230 5279 5287 5290 5291 5293 5294 5310 5319 5337 5338 54600 54732 55512 5563 5621 5660 56963 57103 5728 5743 57704 5973 6319 64116 64132 6470 6472 6476 65078 6517 6609 6610 6646 683 6888 6900 7086 7108 7369 7412 7903 79154 79661 79993 80270 80351 811 8398 847 8527 8630 8803 8867 8987 9197 929 9365 952 9536 960	Homo sapiens (human)
DOID:0111839	congenital disorder of glycosylation Icc Aliases: congenital disorder of glycosylation type Icc	OST3	854252	Saccharomyces cerevisiae S288C
DOID:8568	infectious mononucleosis Aliases: Filatov's disease Gammaherpesviral mononucleosis Monocytic angina Pfeiffer's disease glandular fever mononucleosis	KLRD1 NCAM1	3824 4684	Homo sapiens (human)
DOID:0060583	Noonan syndrome 5 Aliases: NS5	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)

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